A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease

Ciotti, Paola; Luigetti, Marco; Geroldi, Alessandro; Capponi, Simona; Pezzini, Ilaria; Gulli, Rossella; Pazzaglia, Costanza; Padua, Luca; Massa, Roberto; Mandich, Paola; Bellone, Emilia

doi:10.1016/j.jns.2014.05.029

Cited by 17 publications

(27 citation statements)

References 20 publications

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“…Disease progression was mild or moderate in most CMT1C patients, as previously reported . Only one patient in our series, belonging to the CMT‐like group, required a stick for walking.…”

Section: Discussionsupporting

confidence: 84%

Phenotypic spectrum of Charcot−Marie−Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients

Guimarães‐Costa

Ferfoglia

Léonard-Louis

et al. 2017

Euro J of Neurology

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“…Disease progression was mild or moderate in most CMT1C patients, as previously reported . Only one patient in our series, belonging to the CMT‐like group, required a stick for walking.…”

Section: Discussionsupporting

confidence: 84%

Phenotypic spectrum of Charcot−Marie−Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients

Guimarães‐Costa

Ferfoglia

Léonard-Louis

et al. 2017

Euro J of Neurology

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“…Motor conduction velocity was generally in the CMT1 range; however, in some nerves, the conduction velocity was around 30 m/s, generally considered to be in the range of intermediate CMT . Interestingly, in 1 family we also detected conduction block, probably explained by marked hypoexcitability of peripheral nerves …”

mentioning

confidence: 67%

“…8,9 Clinical findings varied consistently between the 2 families; the family with the p.P135R mutation had a severe polyneuropathy with marked strength impairment and sensory disturbances, whereas the family with the p.A129T variant had only a subclinical polyneuropathy. 8,9 Nerve conduction studies (NCS) in both families revealed a demyelinating polyneuropathy. Motor conduction velocity was generally in the CMT1 range; however, in some nerves, the conduction velocity was around 30 m/s, generally considered to be in the range of intermediate CMT.…”

mentioning

confidence: 99%

“…We recently described 2 families affected by CMT1C with 2 novel LITAF / SIMPLE variants . Clinical findings varied consistently between the 2 families; the family with the p.P135R mutation had a severe polyneuropathy with marked strength impairment and sensory disturbances, whereas the family with the p.A129T variant had only a subclinical polyneuropathy …”

mentioning

confidence: 99%

“…10 Interestingly, in 1 family we also detected conduction block, probably explained by marked hypoexcitability of peripheral nerves. 8 We performed nerve US according to standard techniques 2,6 in 3 patients from these 2 families (patient 1 with the p.P135R mutation, and patients 2 and 3 with the p.A129T variant). Other affected members declined examination.…”

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confidence: 99%

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Nerve ultrasound in patients with CMT1C: Description of 3 cases

et al. 2015

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Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes

Michaelidou

Tsiverdis

Erimaki

et al. 2020

Molec Gen & Gen Med

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Background: Charcot-Marie-Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. Methods/Results: Three patients with polyneuropathy suspected to be genetic in origin, but not harboring PMP22 gene deletion/duplication, were offered WES. The first patient, a 66-year-old man, had been suffering from progressive weakness and atrophies in the lower and upper extremities for 20 years. Due to ambiguous electrophysiological findings, immune therapies were administered to no avail. Twelve years after PMP22 deletion/duplication testing, WES revealed two pathogenic variants in the FIG4 gene (p.Ile41Thr and p.Phe598fs, respectively), as a cause of CMT 4J. The second patient, a 19-year-old man, had been suffering from hearing and gait impairment since at least his infancy, and recently presented with weakness and dystonia of the lower extremities. In this patient, WES identified the p.Leu122Val LITAF gene variant in heterozygous state, suggesting the diagnosis of CMT 1C, several years after initial genetic analyses. The third patient, a 44-year-old man, presented with progressive weakness and atrophies of the lower and upper extremities since the age of 17 years old. In this patient, WES identified the hemizygous p.Arg164Gln pathogenic variant in the GJB1 gene, establishing the diagnosis of CMT X1, 8 years after testing for PMP22 deletion/duplication. Conclusion: Novel diagnostic techniques, such as WES, offer the possibility to decipher the cause of CMT subtypes, ending the diagnostic Odyssey of the patients and sparing them from unnecessary and potentially harmful treatments.

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A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease

Cited by 17 publications

References 20 publications

Phenotypic spectrum of Charcot−Marie−Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients

Phenotypic spectrum of Charcot−Marie−Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients

Nerve ultrasound in patients with CMT1C: Description of 3 cases

Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes

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